{
    "disease_id": "DOID:0051032",
    "recommended_name": {
        "id": "DOID:0051032",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051032",
        "name": "primary autosomal recessive microcephaly 21",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0054804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054804",
            "name": "microcephaly 21, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0054804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054804",
            "name": "MCPH21",
            "description": ""
        },
        {
            "id": "MIM:617983",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617983",
            "name": "Microcephaly 21, primary, autosomal recessive",
            "description": "Microcephaly 21, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051032"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051032",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051032",
            "categories": []
        },
        {
            "id": "MONDO:0054804",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054804",
            "categories": []
        },
        {
            "id": "MIM:617983",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617983",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NUS6-1",
            "uniprot_ac": "A0A8M1NUS6",
            "uniprot_id": "A0A8M1NUS6_DANRE",
            "refseq_ac": "NP_001155974",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "cap-d2",
                    "type": "synonym"
                },
                {
                    "name": "condensin complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ncapd2",
                    "type": "recommended"
                },
                {
                    "name": "im:6902697",
                    "type": "synonym"
                },
                {
                    "name": "ncapd2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-175g20.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc13f08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fx06e10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NUS6-1",
            "evidence": [
                {
                    "id": "0051032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K2Z4-1",
            "uniprot_ac": "Q8K2Z4",
            "uniprot_id": "CND1_MOUSE",
            "refseq_ac": "NP_666283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Chromosome condensation-related SMC-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated protein D2",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC condensin I complex subunit D2",
                    "type": "synonym"
                },
                {
                    "name": "XCAP-D2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "chromosome condensation-related SMC-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated protein D2",
                    "type": "synonym"
                },
                {
                    "name": "condensin complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "mCAP-D2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncapd2",
                    "type": "recommended"
                },
                {
                    "name": "2810406C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810465G24Rik",
                    "type": "synonym"
                },
                {
                    "name": "CAP-D2",
                    "type": "synonym"
                },
                {
                    "name": "CNAP1",
                    "type": "synonym"
                },
                {
                    "name": "Capd2",
                    "type": "synonym"
                },
                {
                    "name": "Cnap1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0159",
                    "type": "synonym"
                },
                {
                    "name": "Ncapd2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0159",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K2Z4-1",
            "evidence": [
                {
                    "id": "0051032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15021-1",
            "uniprot_ac": "Q15021",
            "uniprot_id": "CND1_HUMAN",
            "refseq_ac": "NP_055680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Chromosome condensation-related SMC-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated protein D2",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC condensin I complex subunit D2",
                    "type": "synonym"
                },
                {
                    "name": "XCAP-D2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "chromosome condensation-related SMC-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chromosome-associated protein D2",
                    "type": "synonym"
                },
                {
                    "name": "condensin complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-D2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCAPD2",
                    "type": "recommended"
                },
                {
                    "name": "CAP-D2",
                    "type": "synonym"
                },
                {
                    "name": "CAPD2",
                    "type": "synonym"
                },
                {
                    "name": "CNAP1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0159",
                    "type": "synonym"
                },
                {
                    "name": "MCPH21",
                    "type": "synonym"
                },
                {
                    "name": "NCAPD2",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-D2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15021-1",
            "evidence": [
                {
                    "id": "617983",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617983"
                },
                {
                    "id": "0051032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06156-1",
            "uniprot_ac": "Q06156",
            "uniprot_id": "CND1_YEAST",
            "refseq_ac": "NP_013374",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "XCAP-D2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "condensin subunit YCS4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YCS4",
                    "type": "recommended"
                },
                {
                    "name": "L8479.14",
                    "type": "synonym"
                },
                {
                    "name": "LOC7",
                    "type": "synonym"
                },
                {
                    "name": "YCS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06156-1",
            "evidence": [
                {
                    "id": "0051032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JWH3-1",
            "uniprot_ac": "A0A0G2JWH3",
            "uniprot_id": "A0A0G2JWH3_RAT",
            "refseq_ac": "NP_001386371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "condensin complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncapd2",
                    "type": "recommended"
                },
                {
                    "name": "Ncapd2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562596",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JWH3-1",
            "evidence": [
                {
                    "id": "0051032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAJ1-1",
            "uniprot_ac": "Q9VAJ1",
            "uniprot_id": "Q9VAJ1_DROME",
            "refseq_ac": "NP_651709",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CAP-D2 condensin subunit",
                    "type": "synonym"
                },
                {
                    "name": "CG1911-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cap-D2-PA",
                    "type": "synonym"
                },
                {
                    "name": "dCap-D2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cap-D2",
                    "type": "recommended"
                },
                {
                    "name": "CAP-D2",
                    "type": "synonym"
                },
                {
                    "name": "CG1911",
                    "type": "synonym"
                },
                {
                    "name": "Cap-D2",
                    "type": "synonym"
                },
                {
                    "name": "CapD2",
                    "type": "synonym"
                },
                {
                    "name": "DmCAP-D2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1911",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1911",
                    "type": "synonym"
                },
                {
                    "name": "cap-D2",
                    "type": "synonym"
                },
                {
                    "name": "dCap-D2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAJ1-1",
            "evidence": [
                {
                    "id": "0051032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051032"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051032"
}